Recurrent pancreatitis in ornithine transcarbamylase deficiency

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.
Molecular Genetics and Metabolism (Impact Factor: 2.63). 06/2012; 106(4):482-4. DOI: 10.1016/j.ymgme.2012.06.005
Source: PubMed


Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. We report three patients with OTC deficiency with recurrent pancreatitis. The pathogenesis of acute pancreatitis in this patient population requires further elucidation. Pancreatitis significantly affected dietary/metabolic management and increased frequency of hospitalizations.

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